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Our recent study ” Microsatellite Instability Is Insufficiently Used as a Biomarker for Lynch Syndrome Testing in Clinical Practice” aimed to determine how often patients with tumors with MSI-high are undergoing the recommended genetic testing which they benefit from knowing what benefit they will get from immunotherapy, as well as from a possible association of their disease with hereditary cancer.
Microsatellite instability (MSI) analysis is important for identifying patients with a high likelihood of responding to immunotherapy. It is often associated with the presence of inherited mutations in the MMR (Lynch syndrome) genes.
Our study suggests the utility of this assay as a predictive biomarker of response to immunotherapy in a wide range of cancer types. Although international guidelines recommend genetic testing for inherited mutations in MMR genes, regardless of cancer type or family history in all patients with MSI, this does not seem to be applied in clinical practice.
More than half of patients with MSI- high suspected of having inherited mutations are not subjected to genetic testing, resulting in underdiagnosis of Lynch syndrome and other inherited cancer syndromes.
Patients with MSI are a high-risk group for hereditary cancer. Therefore, it is important to raise awareness of the value of genetic testing in this population.
See the study here: https://genekor.com/wp-content/uploads/2024/02/po-8-e2300332.pdf
